A5023048914- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Cardiomyopathy and Myosin Studies
- Ubiquitin and proteasome pathways
- Cancer-related Molecular Pathways
- RNA Interference and Gene Delivery
- Autism Spectrum Disorder Research
- RNA modifications and cancer
- Histone Deacetylase Inhibitors Research
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Fungal and yeast genetics research
Roche (Switzerland)
2021-2023
The Gurdon Institute
2009-2014
University of Cambridge
2009-2014
Wellcome Trust
2014
Novartis (Switzerland)
2014
Radboud University Nijmegen
2006-2010
Radboud University Medical Center
2006-2010
Radboud Institute for Molecular Life Sciences
2010
The Mi-2/NuRD (NUcleosome Remodeling and histone Deacetylase) chromatin remodeling complex is a large heterogeneous multiprotein associated with transcriptional repression. Here we apply SILAC based quantitative proteomics approach to show that all known subunits co-purify Cyclin Dependent Kinase 2 Associated Protein1 (CDK2AP1), also as Deleted in Oral Cancer 1 (DOC-1). DOC-1 displays vitro binding affinity for methylated DNA part of the meCpG MBD2/NuRD complex. In luciferase reporter...
Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported results from FREESIAS study feasibility utility in-clinic at-home measures key AS symptoms. Methods Fifty-five individuals with...
Objectives: To develop within-patient meaningful score differences (MSDs) on the Bayley Scales of Infant Development, Fourth Edition (Bayley-4), and Vineland Adaptive Behavior Scales, Third (Vineland-3), for individuals with Angelman syndrome (AS). Methods: A Delphi method, involving a panel 19 caregivers AS, was used to establish MSDs Bayley-4 Vineland-3 Growth Scale Values. MSD defined as smallest change that would noticeably impact daily functioning an individual AS or family quality life...
Angelman syndrome (AS) is a rare, heterogenous neurogenetic condition, which significantly impacts the lives of people with AS and their families. Valid reliable measures reporting key symptoms functional impairments are required to support development patient-centered therapies. We describe clinician- caregiver-reported, AS-specific Global Impression scales for incorporation into clinical trials. Best practice US Food Drug Administration guidance measure was followed input from expert...
The myotonic dystrophy protein kinase polypeptide repertoire in mice and humans consists of six different splice isoforms that vary the nature their C-terminal tails presence or absence an internal Val-Ser-Gly-Gly-Gly motif. Here, we demonstrate exist high-molecular-weight complexes controlled by homo- heteromultimerization. This multimerization is mediated coiled-coil interactions tail-proximal domain occurs independently alternatively spliced segments activity. Complex formation was...
Abstract Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder with developmental, behavioral, and medical challenges caused by absence of functional UBE3A. AS has unmet treatment needs no approved therapies address its underlying pathophysiology. To develop new therapies, comprehensive data are needed for identification appropriate endpoints to assess meaningful improvements. The FREESIAS study evaluated the feasibility utility in-clinic at-home measures key symptoms,...